Canonical Allele Identifier: CA370316852

Gene: BLK

Linked Data

• gnomAD v4: 8-11564009-G-T
• MyVariant Identifiers: chr8:g.11421518G>T (hg19) ; chr8:g.11564009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564009G>T , CM000670.2:g.11564009G>T	GRCh38
NC_000008.10:g.11421518G>T , CM000670.1:g.11421518G>T	GRCh37
NC_000008.9:g.11458927G>T	NCBI36
NG_023543.1:g.74998G>T
NG_023543.2:g.74998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1527G>T
ENST00000696154.1:c.*737G>T	ENSP00000512445.1:n.*737G>T
ENST00000696155.1:n.303G>T
ENST00000259089.9:c.1419G>T MANE Select	ENSP00000259089.4:p.Trp473Cys
ENST00000645242.1:c.1206G>T	ENSP00000494690.1:p.Trp402Cys
ENST00000259089.8:c.1419G>T	ENSP00000259089.4:p.Trp473Cys
ENST00000526097.1:n.1359G>T
ENST00000529894.1:c.1206G>T	ENSP00000433663.1:p.Trp402Cys
NM_001715.2:c.1419G>T	NP_001706.2:p.Trp473Cys
XM_011543824.1:c.1497G>T	XP_011542126.1:p.Trp499Cys
XM_011543825.1:c.1497G>T	XP_011542127.1:p.Trp499Cys
XM_011543826.1:c.1497G>T	XP_011542128.1:p.Trp499Cys
XM_011543827.1:c.1284G>T	XP_011542129.1:p.Trp428Cys
NM_001330465.1:c.1206G>T	NP_001317394.1:p.Trp402Cys
XM_011543825.3:c.1497G>T	XP_011542127.1:p.Trp499Cys
NM_001715.3:c.1419G>T MANE Select	NP_001706.2:p.Trp473Cys
NM_001330465.2:c.1206G>T	NP_001317394.1:p.Trp402Cys